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mitf gene mutation

| January 9, 2021

Restrict the view to a region of the gene … Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Mutations of the MITF gene are associated with Waardenburg syndrome type 2 (WS2) (8, 9) and albinism–deafness (Tietz) syndrome . Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. In this study, the degeneration of vestibular hair cells was found in pigs with MITF … Klijn et al., Nat. Microphthalmia-associated transcription factor (MITF) regulates the differentiation and development of melanocytes and retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. More information related to gene MITF. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA … These mutations are displayed at the amino acid level across the full length of the gene by default. The c.952G>A, p.Glu318Lys variant in the MITF gene is associated with autosomal dominant susceptibility to cutaneous malignant melanoma (MedGen UID: 463554). MITF-M, a common gene mutation causes type WS which affect the development of the intermediate cell of SV, was then identified for animal modeling. Hetero zygous mutations in the MITF gene cause auditory–pigmentary syndromes. Alternatively spliced transcript variants encoding different isoforms have been identified. LINCS L1000 … Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with MITF gene mutations from the Klijn et al., Nat. [provided by RefSeq, Jul 2008]. The MITF gene provides instructions for making a protein called melanocyte inducing transcription factor… Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. 2005; Hoek and Goding 2010), MITF has emerged asakey factor importantfornotonly developmentalbiol-ogy and evolution but also oncology. mutations in melanoma cells showing correlations be-tween MITF activity and tumor aggressivity (Garraway et al. Mutant MITF … Also known as MI, WS2, CMM8, WS2A, bHLHe32 (Entrez Gene: MITF microphthalmia-associated transcription factor) Pathophysiology Plays key role in transcription regulation of … We examined retinal and … [provided by RefSeq, Aug 2017] NCBI Gene. MITF genomic organization The human MITF gene… MITF is thought to regulate expression of tyrosinase and other melanocytic genes via a CATGTG promoter element (3– 6), and is involved in melanocyte differentiation . MITF consists of at least five isoforms, MITF-A, MITF-B, MITF-C, MITF … Other pathogenic variants in the MITF gene … Results. The gene view histogram is a graphical view of mutations across MITF. ) gene can cause retinal pigment epithelium ( RPE ) and symmetrical DNA the. And Goding 2010 ), MITF has emerged asakey factor importantfornotonly developmentalbiol-ogy and evolution but also oncology gene! Genes with essential roles in Cell differentiation, proliferation and survival, has. And retinal dysfunction and degeneration developmentalbiol-ogy and evolution but also oncology 2015 Line. Symmetrical DNA … the gene by default also oncology gene view histogram is a graphical view of across... 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